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Quoted phrase not found in phrase index: "Chromosome 15q25 deletion syndrome"
Page 1
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S. Poongothai J, et al. Singapore Med J. 2009 Apr;50(4):336-47. Singapore Med J. 2009. PMID: 19421675 Free article. Review.
Each of these regions may be associated with a particular testicular histology, and several candidate genes have been found within these regions. The Deleted in Azoospermia (DAZ) gene family is reported to be the most frequently deleted AZF candidate gene …
Each of these regions may be associated with a particular testicular histology, and several candidate genes have been found within these reg …
Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report.
Yuan K, He M, Fang Y, Zhu J, Liang L, Wang C. Yuan K, et al. Turk J Pediatr. 2022;64(4):729-735. doi: 10.24953/turkjped.2021.749. Turk J Pediatr. 2022. PMID: 36082646 Free article.
BACKGROUND: Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. ...Luteinizing hormone lev …
BACKGROUND: Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities s …
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M. Monzani A, et al. BMC Med Genomics. 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. BMC Med Genomics. 2019. PMID: 30626445 Free PMC article.
Array comparative genomic hybridization (aCGH) analysis detected the presence of two distinct duplications on Xp22.1 flanking the SHOX coding sequence and involving its regulatory regions. An additional duplication of 1.6-2.5 Mb on 15q25.2 that included 13 genes was …
Array comparative genomic hybridization (aCGH) analysis detected the presence of two distinct duplications on Xp22.1 flanking the SHOX codin …
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.
Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO. Kini U, et al. Am J Med Genet A. 2010 Jun;152A(6):1383-9. doi: 10.1002/ajmg.a.33435. Am J Med Genet A. 2010. PMID: 20503312
Our results showed 38 children (38/110 or 34.6%) who had at least one additional structural abnormality or had a known syndromic diagnosis were classed as having syndromic MS. Chromosomal abnormalities were noted in 8/38 (21.4%) children: mosaic marker chr …
Our results showed 38 children (38/110 or 34.6%) who had at least one additional structural abnormality or had a known syndromic diag …
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Luo M, et al. Am J Med Genet A. 2015 Dec;167A(12):3091-5. doi: 10.1002/ajmg.a.37261. Epub 2015 Jul 21. Am J Med Genet A. 2015. PMID: 26198585 Free PMC article.
Further analysis of skin biopsies from both hyper- and hypopigmented regions confirmed the presence of an additional cell line with the short arm of chromosome X deleted and replaced by the entire long arm of chromosome 15. The Xp deletion, consistent …
Further analysis of skin biopsies from both hyper- and hypopigmented regions confirmed the presence of an additional cell line with the shor …
Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P. Papadopoulou E, et al. Am J Med Genet A. 2010 Jun;152A(6):1515-22. doi: 10.1002/ajmg.a.33302. Am J Med Genet A. 2010. PMID: 20503328
The use of array-comparative genomic hybridization (CGH) however, revealed the presence of additional cryptic complex chromosomal rearrangements involving a approximately 5-5.8 Mb distal duplication on chromosome 9 (9q34.1 --> 9q34.3), and deletions on thr …
The use of array-comparative genomic hybridization (CGH) however, revealed the presence of additional cryptic complex chromosomal rea …
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.
Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L. Castronovo C, et al. Hum Reprod. 2014 Feb;29(2):368-79. doi: 10.1093/humrep/det436. Epub 2013 Dec 8. Hum Reprod. 2014. PMID: 24324027 Free PMC article.
STUDY QUESTION: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)? ...A few CNVs involving autosomal and X-linked ovary-related loci were identified by array-CGH analysis and confirmed by real-time qu …
STUDY QUESTION: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome …
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM. Burgess T, et al. Am J Med Genet A. 2014 Jan;164A(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21. Am J Med Genet A. 2014. PMID: 24352913
A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or fe …
A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported …
A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13).
Krajewska Walasek M, Gutkowska A, Bielińska B, Goryluk-Kozakiewicz B, Popowska E. Krajewska Walasek M, et al. Clin Genet. 1998 Jul;54(1):60-4. doi: 10.1111/j.1399-0004.1998.tb03695.x. Clin Genet. 1998. PMID: 9727742
Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at least D15S10 to D15S97 of paternal chromosome 15. FISH studies confirmed the deletion of 15q11q13 region and the presence of two t …
Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at leas …